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PORPHYRIA FACTS
ACUTE INTERMITTENT PORPHYRIA [AIP]
INTRODUCTION
(Intermittent Acute Porphyria; Swedish Porphyria; Pyrroloporphyria)
An autosomal dominant disorder, the most common acute porphyria in most
countries, resulting from a deficiency of PBG deaminase (HMB synthase).
PBG deaminase activity (see Fig. 14-1, enzyme 3) is about 50% of normal,
usually in all tissues of patients with acute intermittent porphyria (AIP). Most of
those who inherit this trait never develop symptoms and are said to have latent
AIP.
Incidence
AIP is found in all races, but is somewhat more common in Northern Europe.
The prevalence of AIP and the other acute porphyrias in the USA and in most
other countries is probably about 5/100,000.
The prevalence may be higher in psychiatric populations.
The disorder is expressed clinically after puberty and more commonly in
women than in men; in some women, attacks occur during the second half of the
menstrual cycle.
A few homozygous cases of AIP have been described, with
symptoms beginning in childhood.
Precipitating Factors
The condition is precipitated by additional factors, including hormones, drugs,
and
diet.
Among the many implicated drugs are barbiturates, other antiseizure drugs, and
sulfonamide antibiotics.
Low-calorie and low-carbohydrate diets, large amounts of alcohol, and
progesterone and related steroids can also precipitate symptoms.
Most drugs and hormones that are harmful in this and other acute porphyrias
induce hepatic ALA synthase and cytochrome P-450 enzymes.
Stress due to infections, other illnesses, surgical treatments, and psychologic
problems is sometimes implicated.
An attack is usually due to multiple factors, some of which are often
unidentifiable.
Symptoms and Signs
Symptoms occur as attacks, which develop over hours or days, and may last for
days, weeks or even longer.
Symptoms are due to effects on the nervous system; the skin is not affected.
Abdominal pain, the most common symptom, can be so severe that an acute
surgical abdomen is mistakenly considered.
Other abdominal symptoms include nausea, vomiting, constipation, and
diarrhea.
Abdominal distention may develop due to a paralytic ileus. The abdominal
manifestations are due to effects on visceral nerves.
The bladder may be similarly affected, and urinary retention, incontinence,
dysuria, and frequency may be observed.
Because there is no inflammation, abdominal tenderness and rebound
tenderness are not prominent, and body temperature is normal or only slightly
increased.
Therefore, findings on a physical examination may be unimpressive compared
with the severity of symptoms.
Tachycardia, hypertension, diaphoresis, and restlessness are common; these
may be due to effects on the autonomic nervous system and excess blood levels
of catecholamines.
Motor neuropathy is common, especially with severe or prolonged attacks, and
indicates damage to motor nerve axons.
Muscle weakness usually begins in the shoulders and arms and can involve any
motor neurons, including cranial nerves.
Severe paralysis, respiratory insufficiency, and, rarely, death may occur.
Tremors and seizures may be present.
Other CNS manifestations include psychiatric symptoms such as agitation and
hallucinations. Inappropriate ADH secretion, presumably due to involvement of
the hypothalamus, can lead to water retention and hyponatremia and may
contribute to seizures.
Recovery from an attack may occur within a few days, but severe muscle
weakness may persist for months or years, especially if diagnosis and treatment
are delayed.
Hypertension can persist and may be associated with kidney impairment.
Chronic liver abnormalities are common, and there is an unexplained increased
risk of hepatocellular carcinoma.
Diagnosis
The attacks of severe abdominal and neurologic symptoms mimic many other
more common conditions.
Therefore, AIP and other acute porphyrias should be suspected and excluded
more commonly than they are confirmed. ALA and PBG levels in the urine or
plasma are very high during attacks (urinary PBG generally ranges from 50 to
200 mg/day [221 to 884 µmol/day], reference range 0 to 4 mg/day [0 to 17.7
µmol/day]; and ALA 20 to 100 mg/day [145.2 to 726.2 µmol/day], reference
range 0 to 7 mg/day [0 to 53.4 µmol/day]), and remain high in patients with
repeated attacks.
Such increases are virtually diagnostic of one of the acute porphyrias, whereas
normal results at or near the time of symptoms effectively exclude acute
porphyrias.
ALA and PBG are colorless.
However, PBG in concentrated solution forms uroporphyrin nonenzymatically
and also degrades to substances called porphobilins.
The ALA that is overproduced in the liver may be metabolized to porphyrins in
other tissues.
The urine may be reddish or brown because of excess porphyrins or
porphobilins respectively, especially after standing in the light.
But because many other substances in urine change color on standing, a
diagnosis cannot be based simply on urine color.
Fecal porphyrins are usually normal or minimally increased, which distinguishes
this disease from hereditary coproporphyria and variegate porphyria.
Urinary uroporphyrin and coproporphyrin and erythrocyte protoporphyrin may
be increased, but these are not specific findings.
In contrast to variegate porphyria, plasma porphyrins are normal or only slightly
increased in AIP.
Attempting to increase PBG for diagnostic purposes by glycine loading or
administration of an inducing drug such as phenobarbital may be dangerous and
is not definitive.
Erythrocyte PBG deaminase is about 50% of normal in most patients with AIP.
This finding helps to confirm the diagnosis in patients with increased urinary or
plasma PBG.
However, erythrocyte PBG deaminase determination is not a useful first test for
ill patients suspected of having AIP, for several reasons:
(1) The ranges for patients with AIP and normal subjects overlap somewhat.
(2) The enzyme activity is high in young erythrocytes and decreases during the
120-day life span of circulating erythrocytes.
Therefore, the enzyme may be falsely increased when there is concurrent
hemolysis, or another reason for increased erythropoiesis causes circulating
erythrocytes to be, on average, younger than normal.
(3) Some mutations causing AIP are in a particular region of the PBG deaminase
gene (within or near the first of its 15 exons) such that the erythroid-specific
form of the enzyme is normal, whereas the enzyme is deficient in all
nonerythroid tissues, including the liver.
(4) Methodologic differences between laboratories can influence test specificity,
and problems in sample processing and shipping can lead to falsely low values.
(5) The enzyme is not deficient in the other acute porphyrias, which are also
important to consider when AIP is suspected. (6) Low erythrocyte PBG
deaminase in a patient with symptoms suggesting porphyria does not establish
that the symptoms are due to porphyria, because the enzyme can be low in
clinically latent as well as in active AIP.
Measuring erythrocyte PBG deaminase is useful in screening relatives after an
index case in the family has been confirmed to have a low value.
Unlike patients with recent symptoms, relatives who have low erythrocyte PBG
deaminase but who have never had symptoms are unlikely to have increased
urinary PBG.
Both erythrocyte PBG deaminase and urinary PBG should be measured during
screening of relatives, because neither test can reliably detect all carriers of the
trait.
DNA studies are the most sensitive and specific means of detecting relatives
who have inherited a mutation associated with AIP, but these studies are
possible only when the exact mutation has first been identified in the index
case.
Diagnosis in utero is possible but is seldom indicated because of the favorable
outlook for most PBG deaminase-deficient people.
Treatment, Prevention, and Prognosis
The treatment of all acute porphyrias is essentially identical.
Acute attacks usually require hospitalization for treatment of symptoms (see
below).
Patients are observed for neurologic complications.
Severe attacks are treated with heme, which can only be administered
intravenously. The standard regimen is 3 mg/kg body weight daily for 4 days.
Heme is taken up in the liver where it suppresses synthesis of the
rate-controlling enzyme ALA synthase and promptly lowers blood and urine
levels of ALA and PBG.
Symptoms resolve, usually within several days. If heme therapy is delayed,
nerve damage is more advanced and recovery is slower and may be incomplete.
Heme is available for IV administration in the USA as lyophilized hematin (heme
hydroxide) to be reconstituted with sterile water.
Hematin is unstable when reconstituted in this manner, and degradation
products form rapidly, commonly causing phlebitis at the infusion site and a
transient anticoagulant effect.
It is commonly recommended, therefore, that hematin be stabilized by
reconstituting it with human albumin (to form heme albumin).
Heme arginate is a heme product that is stable as a concentrated solution and is
diluted with sterile saline for IV use; it is marketed in some other countries but
not in the USA.
Heme albumin and heme arginate are seldom associated with phlebitis and do
not cause anticoagulant effects.
Heme therapy should be initiated early, but only after the diagnosis of a
porphyric attack is confirmed by a marked increase in urinary PBG.
Diagnosis is more difficult for at least several days after heme therapy because
of the prompt lowering of PBG levels.
Symptomatic therapy is important.
Pain is controlled with narcotic analgesics.
Nausea, vomiting, anxiety, and restlessness are treated with small to moderate
doses of a phenothiazine. (After recovery, continued treatment with a
phenothiazine is seldom indicated.)
Chloral hydrate can be used for insomnia.
Short-acting benzodiazepines in low doses are probably safe for minor
sedation. (However, barbiturates and many other drugs are not.)
Bladder distention may require catheterization. Harmful drugs should be
stopped, and other factors contributing to the attack should be identified and
corrected if possible.
If oral intake is poorly tolerated or contraindicated by distention and ileus, IV
glucose (300 g/day) or more complete parenteral nutrition may be needed.
Hospitalization may not be necessary for patients with recurrent and
consistently mild attacks.
Some patients with acute porphyrias develop chronic pain and other continuing
symptoms. Heme therapy and carbohydrate loading are generally not effective
for these patients.
Treatment of seizures is problematic because virtually all antiseizure drugs
(except bromides and perhaps gabapentin) can exacerbate acute porphyrias.
Seizures during attacks may result directly from the porphyria or may be
secondary to hyponatremia.
In some patients, porphyria and idiopathic seizures coexist.
If seizures are thought to be related to an acute attack, antiseizure drugs can be
discontinued as recovery occurs.
Beta-Blockers may control tachycardia and hypertension in attacks of acute
porphyria but may be hazardous in hypovolemic patients, in whom increased
catecholamine secretion may be an important compensatory mechanism.
Prevention of porphyric attacks is important, must be individualized, and
includes the following:
(1) Family members should be screened to detect latent cases and institute
preventive measures.
(2) Harmful drugs should be avoided.
(3) Crash diets and even brief periods of starvation (eg, postoperatively or
during intercurrent illnesses) should be avoided. Diet regimens for obesity
should provide for gradual weight loss during periods of clinical remission of
porphyria.
(4) Heme therapy can prevent frequently recurring attacks, but there is no
standardized regimen.
Current studies suggest that a single heme infusion once or twice weekly may be
effective.
(5) Frequent premenstrual attacks can be prevented with a gonadotropin-
releasing hormone analog with low-dose estrogen replacement, although this
use is still investigational.
Oral contraceptives are sometimes used successfully, but there is risk that the
progestin will exacerbate the porphyria.
Because oophorectomy is irreversible, it should not be considered for
prevention of cyclic attacks unless there is another clinical indication.
The prognosis for patients with PBG deaminase deficiency is excellent.
The great majority never develop symptoms, especially if they have normal
urinary concentrations of porphyrin precursors.
Although such people are less sensitive to inducing drugs than are patients with
prior porphyric symptoms and persistently increased ALA and PBG, they should
follow the same precautions as porphyric patients who have had acute attacks.
Latent AIP should not be considered a health risk that limits the person's access
to health and life insurance.
The prognosis for those who develop attacks has improved in the past 20 years.
Attacks of porphyria are now rarely fatal because of earlier diagnosis, better
treatment, and recognition and removal of inciting factors.
Although recurrent and disabling attacks of porphyria occur in some patients,
these do not occur throughout adult life, and the course of the disease is seldom
progressive.
SOURCE:
Merck Manual
+++++++++++
Acute intermittent porphyria (AIP) is
one of the porphyrias.
SOURCE:
Dr. Karl E. Anderson MD
University of Texas Medical School
Galveston, TX
+++++++++++++++++++++++++
Acute intermittent porphyria (AIP) is a part of
a group of diseases involving defects in heme
metabolism and that results in excessive
secretion of porphyrins and porphyrin precursors.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria (AIP) manifests
itself by abdomen pain, neuropathies, and constipation.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Constipation can be severe in Acute
intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Acute intermittent porphyria (AIP) is
one of the porphyrias.
SOURCE:
Dr. Karl E. Anderson MD
University of Texas Medical School
Galveston, TX
+++++++++++++++++++++++++
Steroids or sex hormones have been clinicallyindicated in the triggering of acute
porphyrias.
Anderson, Karl E.
Studies in porphyria. VIII. Relationship of the 5-alpha-reductive metabolism of
steroid hormone to clinical expression of the genetic defect in acute intermittent
porphyria.
Am. J. Med.
66: 644-650, 1979.
+++++++++++++++++
Cortical blindness and cranial neuropathies canoccur as part of the neurological
changes in the acute porphyrias.
SOURCE:
Becker, D. M.; Kramer, S. :
The neurological manifestations of porphyria
Medicine
56: 411-423, 1977.
++++++++++++++++++
Peripheral neuropathy along with mental changeshave been clinically observed
in cases of acuteporphyrias.
SOURCE:
Becker, D. M.; Kramer, S. :
The neurological manifestations of porphyria
Medicine
56: 411-423, 1977.
++++++++++++++++++
The use of birth control pills have been indicated as inducers of episodes of
acute porphyria.
SOURCE:
Sassa, S.; Kappas, A. :
Studies in porphyria. VIII. Relationship of the 5-alpha-reductive metabolism of
steroid hormone to clinical expression of the genetic defect in acute intermittent
porphyria.
Am. J. Med.
66: 644-650, 1979.
+++++++++++++++++
Lutenizing hormone use in women with acuteintermittent porphyria have been
found to bebeneficial.
SOURCE:
Anderson, Karl . E.et. al.
Prevention of cyclical attacks of acute intermittent porphyria with a long-acting
agonist of luteinizing hormone-releasing hormone.
New Eng. J. Med.
311: 643-645, 1984.
++++++++++++++++++++
Studies of PBG-D in AIP patients has clearlyevidenced that AIP has subtypes
which do not carry the 50% diminished PBG-D in blood
serum testing.
SOURCE:
Anderson, K. E.; Desnick, R. J. :
Characterization of the porphobilinogen deaminase deficiency in acute
intermittent porphyria: immunologic evidence for heterogeneity of the genetic
defect.
J. Clin. Invest.
68: 1-12, 1981
++++++++++++++++++
Seizure activity along severe electrolyteimbalances can occur in acute
porphyrias.
SOURCE:
Becker, D. M.; Kramer, S. :
The neurological manifestations of porphyria
Medicine
56: 411-423, 1977.
++++++++++++++++++
The use of steroids by persons with acute porphyriasshould be avoided.
Steroids have been clinically observed in the triggering of acute episodes.
SOURCE:
Sassa, S.; Kappas, A.
Studies in porphyria. VIII. Relationship of the 5-alpha-reductive metabolism of
steroid hormone to clinical expression of the genetic defect in acute intermittent
porphyria.
Am. J. Med.
66: 644-650, 1979.
+++++++++++++++++
High blood pressure, tachycardia, profusedsweating, vomiting and diarrhea,
mental confusion,and peripheral neuropathy have all been observed
as neurological manifestations of acute porphyrias.
SOURCE:
Becker, D. M.; Kramer, S. :
The neurological manifestations of porphyria
Medicine
56: 411-423, 1977.
++++++++++++++++++
Femal acute porphyria patients with repeatedcyclic attacks can prevent such
attaks throughthe use of long-acting agonists.
SOURCE:
Sassa, S.; Kappas, A. et. al.Prevention of
cyclical attacks of acute intermittent
porphyria with a long-acting agonist of
luteinizing hormone-releasing hormone.
New Eng. J. Med.
311: 643-645, 1984.
++++++++++++++++++++
Coma, bulbar paralysis and respiratory paralysiscan all occur as part of the
neurological manifestations of the acute porphyrias.
SOURCE:
Becker, D. M.; Kramer, S. :
The neurological manifestations of porphyria
Medicine
56: 411-423, 1977.
++++++++++++++++++
Variants of AIP have been identified.
A Type II AIP presents with normal PBG-Dblood serum.
SOURCE:
Astrin, K. H.; Desnick, R. J. :
Molecular basis of acute intermittent porphyria:
mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Hum. Mutat.
4: 243-252, 1994.
+++++++++++++++++
Molecular studies have been completed
observing the activity of uroporphyrinogen
1 synthase.
SOURCE:
Astrup, E. G. :
Family studies on the activity of
uroporphyrinogen I synthase in
diagnosis of acute intermittent porphyria.
Clin. Sci.
54: 251-256, 1978.
+++++++++++++++++
Type II AIP, a variant form of AIP has been identified.
SOURCE:
Astrin, Kenneth. H.; Lee, G.; Anderson, K. E.;
Desnick, R. J. :
Acute intermittent porphyria: identification
and expression of exonic mutations in the hydroxymethylbilane synthase gene.
An initiation codon missense mutation in
the housekeeping transcript causes
'variant acute intermittent porphyria'
with normal expression of the erythroid-specific
enzyme.
J. Clin. Invest.
94: 1927-1937, 1994.
+++++++++++++++++
Abdominal pain is a main feature of the
neurological manifestations of acute porphyrias.
SOURCE:
Becker, D. M.; Kramer, S. :
The neurological manifestations of porphyria
Medicine
56: 411-423, 1977.
++++++++++++++++++
Homozygous forms of AIP have been identified.
SOURCE:
Nordmann, Y.; Deybach, J. C.; Grandchamp, B.; A retrospective study of a
patient with homozygous form of acute intermittent porphyria.
J. Inherit. Metab. Dis.
13: 673-683, 1990.
++++++++++++++++
Studies have indicated that the use of hematin
provides no beneficial effects for PN.
SOURCE:
Pierach, Claus. A.;
Effect of hematin in porphyric neuropathy.
Neurology
27: 1053-1056, 1977.
+++++++++++++++++
A number of variant mutations have been identified
in acute intermittent porphyria.
SOURCE:
Astrin, Kenneth. H.; Lee, G.; Anderson, K. E.; Desnick, R. J. : Acute intermittent
porphyria: identification and expression of exonic mutations in the
hydroxymethylbilane synthase gene. An initiation codon missense mutation in
the housekeeping transcript causes 'variant acute intermittent porphyria' with
normal expression of the erythroid-specific enzyme.
J. Clin. Invest.
94: 1927-1937, 1994.
+++++++++++++++++
As clinical research continues additonal
mutational variants of AIP are being identified.
SOURCE:
Sasaki, H. :
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the
porphobilinogen deaminase gene that results in exon skipping.
Hum. Genet.
92: 549-553, 1993.
+++++++++++++++++++
CRIM-negative subtypes of AIP have been identified.
SOURCE:
G.; Deybach, J. C.; Nordmann, Y.; Grandchamp, B. Molecular heterogeneity of
acute intermittent porphyria: identification of four additional mutations resulting
in the CRIM-negative subtype of the disease.
Am. J. Hum. Genet.
49: 421-428, 1991.
++++++++++++++
Exon 10 is the main foci of AIP.
SOURCE:
Deybach, J. C.; Nordmann, Y.; Grandchamp, B. :
Two different point G to A mutations in exon 10 of the porphobilinogen
deaminase gene are responsible for acute intermittent porphyria.
J. Clin. Invest.
86: 1511-1516, 1990.
++++++++++++++++++
Variant mutations have been identified in AIP.
SOURCE:
Astrin, K. H.; Desnick, R. J. Identification and characterization of
hydroxymethylbilane synthase mutations causing acute intermittent porphyria:
evidence for an ancestral founder of the common G111R mutation.
Am. J. Med. Genet.
86: 366-375, 1999.
++++++++++++++++
One specific mutation in AIP has been identified
and results in normal PBG-D in testing.
SOURCE:
Desnick, R. J.; Tishler, P. A.; Mustajoki, P. :
Acute intermittent porphyria: characterization of a novel mutation in the structural
gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme
intermediates stabilized by bound substrate.
J. Clin. Invest.
76: 865-874, 1985.
+++++++++++++++
Acute intermittent porphyria (AIP) is a part of a group of diseases involving
defects in heme metabolism and that results in excessive
secretion of porphyrins and porphyrin precursors.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
What is the most common type of porphyria?
Acute intermittent porphyria (AIP) is the most common type of acute porphyria."
SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
++++++++++++++++++
Acute intermittent porphyria leads to symptoms of the central nervous system
during an acute exacerbation.
SOURCE:
Clinical Pharmacological Therapy
1999 Sep;66(3):323-5
"Psychotropic drugs in acute intermittent porphyria."
Holroyd S, et. al.
Department of Psychiatric Medicine,
University of Virginia Health Sciences
Charlottesville VA
+++++++++++
AIP runs from 60 to 100 per 100,000."
SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
+++++++++++++++++
AIP is also known as Pyrroloporphyria.
SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
+++++++++++++++
AIP population has increased
The newly available and much more sensitive blood-cell enzyme tests have
naturally resulted in greatly increased population frequency estimates
Up from 4% of the world population a century ago, it is found that now greater
than 9% of the population have porphyria.
SOURCE:
Susceptibility to Environmental Chemicals
The International Congress on Hazardous Waste
Atlanta Georgeia
1995
Dr. William E. Morton M.D.
++++++++++++++++++++
The porphyrias are a group of metabolic disorders caused by a genetic
abnormality or mutation in the heme synthetic pathway. As a result of this
mutation there is an overproduction of porphyrins and other precursors of the
pathway that can accumulate in tissues and are excreted in large amounts in the
urine.
AIP was once considered a rare condition, however today with better means of
diagnosis and a better understanding of the disease it is known that 10% of the
population are carriers of porphyria with 9 % of the carriers remaining latent
while about 1% experience the acute attacks.
Most of all AIP porphyria patients affected will have a positive family history,
however 30% will occur in people without any known history in relatives as cited
by studies by Whatley and other porphyria researchers.
Genetic components of AIP
AIP is caused by an abnormality in one of the 8 genes that codes for synthesis
of HEME . Heme is a component of hemoglobin, which is the oxygen-carrying
molecule in red blood cells. The defective gene is carried in the DNA of the AIP
patient who has inherited it from one of their parents.
The abnormal gene can be passed to the next generation, with males and
females having an equal chance of inheriting the abnormality (50%). WHen this
happens it is known as autosomal dominant inheritance.
An important point to remember however is that inheritance of the abnormal
gene does not mean that acute attacks of AIP will definitely occur.
Some studies have shown that only 10% of people with the genetic mutation for
AIP develop symptoms (Sack 1990). Thus, this study would indicate that a
person who suffers attacks of AIP could be descended from a parent who has
the abnormal gene, but has never experienced an acute attack.
Sexual ratio of attacks
Sexually, males and females have an equal chance of inheriting AIP, however
more females experience porphyria attacks than males. Some studies have
indicated that the ratio runs about 3 to 2.
The reason expressed for this ratio is thought to be due to the influence of the
female sex hormones and the cyclic onset of menses.
SOURCE:
Karen Littlejohn FNP
++++++++++++++++++++++++
Diagnosis of AIP
There are only two ways to diagnose AIP in a person.
The first and foremost way of diagnosing an AIP patient is the use of
biochemical l testing of urine samples during an attack of porphyria,
The second way to diagnosis AIP is through the use of genetic testing . Gnetic
testing can be performed at any time regardless whether a person is latent
of acute.
SOURCE:
Robert Johnson MD
+++++++++++++++
What is the Cause of AIP?
The genetic abnormality affects one of the enzymes (PBG deaminase) involved
in heme synthesis, but does not impair heme quality or quantity. The faulty
enzyme (PBG deaminase) causes accumulation of heme building-blocks
(porphyrins) that fail to be incorporated into the heme molecule.
The build-up of porphyrins in the nervous system causes symptoms of an attack.
Porphyrin accumulation does not occur in normal people.
There are various symptoms which a person can experience during an attack of
porphyria but the majority involve the nerves.
Almost all attacks can be traced to a precipitating factor.
SOURCE:
Robert JOhnson MD
Internal Medicine
++++++++++++++
AIP is an important medical condition because AIP porphyria attacks can
be very serious.
The prognosis for AIP patients is improving significantly as porphyria pagients
become more educated about their disease as well as finding physicians who
are more knowledgeable about porphyria.
SOURCE:
Poprhyria:: Living with AIP
Diana Deats-O’Reilly
+++++++++++++
Porphyria education is twofold:
(1) Patients need to educate themselves as well as the physians,
(2) Both need to work cooperatively in treatment planning and management.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++++
Prevention of attacks and early intervention during attacks are the main goals of
management.
SOURCE:
Karen Littlejohn FNP
++++++++++++++++
With a sensible approach and good medical supervision a person with AIP can
have a normal lifespan and a fairly normal quality of life.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++
Childhood onset of the acute porphyria
"The autosomal dominant acute hepatic porphyrias, acute intermittent porphyria
(AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), are rarely
present before puberty.
SOURCE:
Journal of Inherited Metabolic Disease
20(2): 237-46.
1997
"Hepatic porphyrias in children."
Elder, G. H. .
++++++++++++++++++
Some children with acute porphyria have been identified.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++++++
Hepatic porphyria uncommon in children
Clinically overt hepatic porphyria is considered uncommon in children.
SOURCE:
Journal of Inherited Metabolic Disease
20(2): 237-46.
1997
"Hepatic porphyrias in children."
Elder, G. H. .
+++++++++++++
PBG-D activity in red blood cells is approximately half-normal in 70-80 percent of
AIP patients. (About 25% of AIP patients test within the normal range.)
SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
+++++++++++++++++++
The commonest type of AIP, is the CRM-negative form."
SOURCE:
Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish
families with acute intermittent porphyria.
Lee, J.
Human Genetics
87: 484-488, 1991.
++++++++++++++++++
Chester porphyria is AIP variant.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++++++
Some 14 to 20 % of AIP patients are carriers of a variant form of AIP. One such
variant form of AIP is known as Chester porphyria.
Chester Porphyria is a varient condition of AIP and is found in England.
SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
++++++++++++++++
In some AIP porphyria patients, establishing the specific form of AIP on the road
to diagnosis is complex in that blood testing for AIP does not disclose a
diminished level of the PBG-deaminase which is remarkable in normal AIP
laboratory findings.
It is not until after DNA testing is completed that the normal level of
PBG-deaminase is understood in context of an AIP diagnosis. Because of the
normal PBG deaminase level it is originally thought that a diagnosis could not be
that of AIP, however
AIP subtypes had not been investigated.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++++
In persons genetically susceptible acute intermittent porphyria (AIP), PBG
deaminase levels are approximately half of usual values except in about 14% of
patients with the rarer subtypes of AIP.
Normal levels of erythrocyte PBG deaminase can be found in rare abnormal
forms of hepatic PBG deaminase.
SOURCE:
Nuttall KL. Porphyrins and disorders of porphyrin metabolism.
Tietz textbook of clinical chemistry,
2d ed. 1994;
Philadelphia: W.B. Saunders Co.,
2073-2106.
+++++++++++++++++
A mutation is an unusual change in a person's gene that occurs by itself with or
without the influence of a mutagen, as xrays.
The alteration changes the physical trait carried by the gene.
Genes are stable units, but a mutation often is passewd on to future
generations."
SOURCE:
The Mosby Medical Encyclopedia
Revised Edition
Plume Books
+++++++++++++++
All forms of AIP are autosomal dominant in inheritance pattern.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++
AIP is caused by a genetic defect in chromosome 11, where one of two genes
for porphobilinogen deaminase is defective.
SOURCE:
AACN Clinical Issues
Critical Care Nursing
1994 Feb;5(1):36-41
Caring for patients with acute intermittent porphyria.
Shively BD, et.aL
++++++++++++++++++.
Many AIP cases are still unrecognized or misdiagnosed.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++
Unknown numbers of cases may still be unrecognized or misdiagnosed as
another porphyria.
SOURCE:
Medicine Journal
August 6 2001
Volume 2, Number 8
Maureen Poh-Fitzpatrick, MD
Department of Internal Medicine
Division of Dermatology
University of Tennessee
College of Medicine
++++++++++++++++
In 1998 135 different mutations had been reported in the PBGD gene in cases of
AIP. Only 3 mutations, all located in exon 1 and the surrounding intron/exon
junction, had been characterized in the nonerythroid AIP variant.
SOURCE:
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in
the non-erythroid variant form of acute intermittent porphyria. "
Puy, H. et. al.
Human Genetics
103: 570-575, 1996
1998.
++++++++++++++
All cases of acute intermittent porphyria (AIP) are believed to be caused by a
mutation in the gene encoding for porphobilinogen deaminase,
(PBG-D) a rate-limiting enzyme in the heme synthetic pathway."
SOURCE:
Acta Psychiatric Scandinvia
1994 Apr;89(4):262-7
Acute intermittent porphyria and mental illness
Patience DA, Blackwood DH, McColl KE, Moore MR.
Department of Psychiatry,
University of Edinburgh,
Royal Edinburgh Hospital, United Kingdom
+++++++++++++++++++
Sex hormone-binding globulin (SHBG), thyroxine-binding globulin (TBG) and
cortisol-binding globulin (CBG) have been measured in plasma of patients with
acute intermittent porphyria (AIP).
SOURCE:
Elevation of hormone-binding globulins in acute intermittent porphyria.
Herrick AL, McColl KE, Wallace AM, Moore MR, Goldberg A.
University Department of Medicine
Gardiner Institute,
Western Infirmary, UK.
Clin Chim Acta.
1990 Feb 28;187(2):141-8.
+++++++++++++++
Patients with clinically manifest AIP all have elevated
SHBG ( Sex hormone-binding globulin) levels.
SOURCE:
Elevation of hormone-binding globulins in acute intermittent porphyria.
Herrick AL, McColl KE, Wallace AM, Moore MR, Goldberg A.
University Department of Medicine
Gardiner Institute,
Western Infirmary, UK.
Clin Chim Acta.
1990 Feb 28;187(2):141-8.
+++++++++++++++
Patients with latent porphyria have normal SHBG ( Sex hormone-binding
globulin) levels.
SOURCE:
Elevation of hormone-binding globulins in acute intermittent porphyria.
Herrick AL, McColl KE, Wallace AM, Moore MR, Goldberg A.
University Department of Medicine
Gardiner Institute,
Western Infirmary, UK.
Clin Chim Acta.
1990 Feb 28;187(2):141-8.
+++++++++++++++
TBG (thyroxine-binding globulin) has been found to be elevated in patients
with clinically manifest porphyria.
SOURCE:
Elevation of hormone-binding globulins in acute intermittent porphyria.
Herrick AL, McColl KE, Wallace AM, Moore MR, Goldberg A.
University Department of Medicine
Gardiner Institute,
Western Infirmary, UK.
Clin Chim Acta.
1990 Feb 28;187(2):141-8.
+++++++++++++++
Only some AIP have been found to have CBG (cortisol-binding globulin)
elevated.
SOURCE:
Elevation of hormone-binding globulins in acute intermittent porphyria.
Herrick AL, McColl KE, Wallace AM, Moore MR, Goldberg A.
University Department of Medicine
Gardiner Institute,
Western Infirmary, UK.
Clin Chim Acta.
1990 Feb 28;187(2):141-8.
+++++++++++++++
In a study of acute attacks in AIP patients, SHBG levels fell with findings
suggesting that a close correlation exists between elevated SHBG (Sex
hormone-binding globulin) and clinical expression of AIP.
SOURCE:
Elevation of hormone-binding globulins in acute intermittent porphyria.
Herrick AL, McColl KE, Wallace AM, Moore MR, Goldberg A.
University Department of Medicine
Gardiner Institute,
Western Infirmary, UK.
Clin Chim Acta.
1990 Feb 28;187(2):141-8.
+++++++++++++++
The symptoms of porphyria still cannot be completely explained by our present
understanding of the biochemical defects of porphyria.
In all cases there is an identifiable abnormality of the enzymes. Medical science
as we enter the millenium can still not explain the neurological symptoms
experienced in porphyria.
Such are especially puzzling since the metabolic defect is confined to
non-neural tissue, and no known diffusible intermediate can cause the observed
neurological symptoms."
SOURCE:
Understanding Porphyria Symptomology as we Enter the Millenium
Presentation Paper
M. Tokomyko MD
International Congress on Porphyria
Paris, France
July 1999
++++++++++
The classical clinical triad of AIP is abdominal pain, vomiting, and constipation.
However, more recent reports have changed the triad to abdominal pain,
peripheral neuropathy, and mental changes, thus underscoring nervous
system involvement.
SOURCE:
Dr. Robert Johnson M.D.
Retired Clinician
+++++++++++++
AIP patients may have mental status changes.
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
++++++++++++++
Cortical blindness may occur in AIP
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
+++++++++++++
Seizures may occur in AIP.
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
+++++++++++++
Cortical blindness may occur in AIP.
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
++++++++++++++
AIP patients may have central nervous system signs consisting of seizures,
mental status changes, cortical blindness, and coma.
SOURCE:
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Associate Director
Department of TransfusionMedicine
Division of Clinical Pathology
Associate Professor
Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon
+++++++++++
Symptoms usually occur as attacks that develop over several hours or days.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++
Abdominal pain is the most common symptom of AIP.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++
Abdominal pain, which can be severe, is the most common symptom.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++++
Acute intermittent porphyria leads to symptoms of the central nervous system
during an acute exacerbation.
SOURCE:
Clinical Pharmacological Therapy
1999 Sep;66(3):323-5
"Psychotropic drugs in acute intermittent porphyria."
Holroyd S, et. al.
Department of Psychiatric Medicine,
University of Virginia Health Sciences
Charlottesville VA
++++++++++++
Signs and symptoms of AIP rarely start before puberty.
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
++++++++++
The majority of AIP patients are assymptomatic.
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++++
Besides adbominal pain in AIP there may include nausea, vomiting, constipation,
pain in the back, arms and legs, muscle weakness (due to effects on nerves
supplying the muscles),urinary retention, palpitation (due to a rapid heart
rate and often accompanied by increased blood pressure), confusion,
hallucinations and seizures.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++++
The pathophysiologic changes seen in AIP are due to vasospastic effects, which
may also underlie some of the neurologic changes seen in AIP.
SOURCE:
Renal symptomatology in patients with acute intermittent porphyria
Andersson C, Wikberg A, Stegmayr B, Lithner F.
Journal of Internal Medicine
2000;248:319-325.
++++++++++++
Acute Intermittent Porphyria (AIP) is characterized primarily by gastrointestinal
and neurological complaints.
SOURCE:
Acute Intermittent Porphyria
Medicore Ltd.
1996
+++++++++++
AIP patients may have central nervous system signs consisting of seizures,
mental status changes, cortical blindness, and coma.
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Associate Director
Department of TransfusionMedicine
Division of Clinical Pathology
Associate Professor
Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon
+++++++++++++
AIP acute attacks present with tachycardia.
SOURCE:
Jean-Charles Deybach, M.D., Ph.D.
Hôpital L. Mourier and Faculté de Médecine X. Bichat
Université Paris 7, France
+++++++++
The majority of AIP patients are asymptomatic
SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
+++++++++++++++
Acute intermittent porphyria (AIP) manifests itself by abdomen pain,
neuropathies, and constipation.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Constipation can be severe in Acute
intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Acute intermittent porphyria (AIP) can be
triggered by unsafe drugs.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Acute intermittent porphyria (AIP) do not
have a rash like other tyhpes of porphyrias.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Many neropathies can present in Acute
intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Acute intermittent porphyria (AIP) is an autosomal
dominant disease.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
The inheritance pattern of Acute intermittent
porphyria (AIP) is autosomal dominant.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria (AIP) results
from defects in the enzyme porphobilinogen-deaminase.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The porphobilinogen-deaminase enzyme
speeds the conversion of porphobilinogen
to hydroxymethylbilane in Acute intermittent
porphyria (AIP).
SOURCE:
Mark Matthews PhD
Biochemistry
++++++++++++++++++++
In Acute intermittent porphyria (AIP) the
porphyrin precursors, porphobilinogen and
amino-levulinic acid (ALA), accumulate.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The predominant problem in Acute intermittent
porphyria (AIP) appears to be neurologic damage
that leads to peripheral and autonomic neuropathies
and psychiatric manifestations.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
A number of unsafe drugs exist of which use of any one
of them can result inducing heme synthesis thereby
triggering acute intermittent porphyria (AIP).
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Although Acute intermittent porphyria (AIP)
patients with acute attacks always have
elevations of porphobilinogen and ALA,
how this leads to the symptomatic disease
is still unclear because most patients with
the genetic defect have excessive porphyrin
secretion but no symptoms.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The Acute intermittent porphyria (AIP) patient
should receive a high-carbohydrate diet during
the attack.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
If the Acute intermittent porphyria (AIP) patient is
unable to eat, intravenous glucose should be administered.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
During acute attacks an Acute intermittent porphyria
(AIP) patientshould ingest a minimum of 350 grams
of carbohydrate.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Between attacks, eating a balanced diet is more i
mportant than eating one rich in glucose for Acute
intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Imaging studies are not helpful in Acute
intermittent porphyria (AIP).
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Abdomen films in Acute intermittent porphyria
(AIP) demonstrate an ileus.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Findings on cranial CT scan are normal in Acute
intermittent porphyria (AIP)
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
.
Brain MRI given Acute intermittent porphyria (AIP) patients occasionally shows
signs of increased edema in patients
having very severe attacks.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Edema can be present in Acute intermittent porphyria (AIP)
patients.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
The fundamental step in diagnosing Acute intermittent
porphyria (AIP) is to demonstrate increased urinary
porphobilinogen secretion.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
If a suspected patient has no increased secretion of
porphobilinogen, acute porphyria is
eliminated as a cause of the neurovisceral symptoms.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
A common error in the diagnosis of acute porphyria
is the failure to order urine porphyrins.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Porphobilinogen, a porphyrin precursor, usually is
not included in a urine porphyrin screen and must
be ordered specially.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Acute intermittent porphyria (AIP) patients have elevated porphobilinogen
between attacks.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
In some Acute intermittent porphyria (AIP)
patients with a remote (years) history of attacks,
porphobilinogen can return to the reference range.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Elevation of urine porphyrins, especially
croporphobilinogen, is observed in Acute i
ntermittent porphyria (AIP).
This is caused by spontaneous
polymerization of
porphobilinogen in the urine.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Nonspecific (1-2 times reference range) elevation
of urine porphyrins, especially coproporphyrins,
is common and is not indicative of porphyria in
many suspected porphyria patients.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Fecal studies in Acute intermittent porphyria (AIP)
are normally found to be within range.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
In Acute intermittent porphyria (AIP) Stool
porphyrins are within the reference range or
mildly elevated.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Mild leukocytosis is often found in Acute intermittent
porphyria (AIP).
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Some nonspecific signs in an attack of Acute
intermittent porphyria (AIP) include hyponatremia,
syndrome of inappropriate secretion of antidiuretic
hormone (SIADH), and mild leukocytosis.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Use of tobacco products should be avoided in AIP.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Hyponatremia often presents in Acute intermittent
porphyria (AIP).
Although a defective enzyme causes Acute intermittent
porphyria (AIP), measuring the activity of porphobilinogen
deaminase is of little value.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Approximately 14% of Acute intermittent porphyria
(AIP) patients will have normal activity because a
different form of the enzyme is expressed in the hematopoietic tissues.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
The different forms are the basis of
AIP TYpe I and AIP Type II.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
The vast majority of Acute intermittent porphyria
(AIP) patients with the defective enzyme do not
have any symptoms of the disease.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria (AIP) is due to a
combination of a genetic enzyme defect and
acquired causes that become symptomatic
only in some patients.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
In patients with Acute intermittent porphyria (AIP),
the function of porphobilinogen-deaminase is
only 40-60% of normal.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
With the advent of molecular technique, the genetic
defect of Acute intermittent porphyria (AIP) clearly is
more common than symptomatic AIP.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
On average, out of patients with the genetic defect,
perhaps 10-20 % secrete excess porphyrin
precursors and only 1-2 have symptoms.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
The classic inducers of porphyria are chemicals
or situations that boost heme synthesis.
This includes fasting and many medications.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Although very large lists of "safe" and "unsafe"
drugs exist, many of these are based on
anecdotes or laboratory evidence and do
not meet strict criteria.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Use of alcohol should be avoided in AIP.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++
In general, drugs that lead to increased activity of the hepatic
P450 system, such as phenobarbital,
sulfonamides, estrogens, and alcohol,
are associated with AIP porphyria.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Fasting for several days also can trigger
an attack of Acute intermittent porphyria (AIP).
However, many attacks occur without any obvious
provocation
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
A rapid pulse is commonly associated
with attacks in Acute intermittent porphyria (AIP)
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
From 30-80% of Acute intermittent porphyria
(AIP) patients have tachycardia.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Propranolol has often been prescribed for the
treatment of hypertension and tachycardia in
AIP patients.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Fever can be present in some Acute
intermittent porphyria (AIP) patients.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Cardiac arthymias can present in Acute
intermittent porphyria (AIP).
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
High blood pressure is commonly associated
with the onset of
an acute attack of Acute intermittent
porphyria (AIP).
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Hypertension is observed in half of
patients and may persist between attacks.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Neurological manifestations are part
of Acute intermittent porphyria (AIP)
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Acute intermittent porphyria (AIP) neuropathy is
usually a motor neuropathy that is more
predominant in the lower limbs.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Areflexia often is present on examination in most
Acute intermittent porphyria (AIP).
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
In Acute intermittent porphyria (AIP) any nerve can
be involved, and cranial neuropathies also are observed.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The cranial nerve can be affected in
Acute intermittent porphyria (AIP).
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Acute intermittent porphyria (AIP)
Patients also may have cortical blindness.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Despite the intense pain, the findings on
abdominal examination often are nonspecific
in Acute intermittent porphyria (AIP).
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Unlike many other porphyrias, Acute intermittent
porphyria (AIP) Type I is not
associated with a skin rash.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Photosensitivty is not a symptom of Acute
intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Treatment for acute attacks of Acute
intermittent
porphyria (AIP) is to decrease heme
synthesis and reduce the production
of porphyrin precursors.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
High doses of glucose (400 g/d) can inhibit heme
synthesis and are useful for treatment of mild attacks
of Acute intermittent porphyria (AIP) .
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Pain control in Acute intermittent porphyria (AIP) is best
achieved with narcotics.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Laxatives and stool softeners should be
administered with the narcotics to avert
exacerbating existing constipation in
Acute intermittent porphyria (AIP).
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
In Acute intermittent porphyria (AIP) seizures
should be treated with Neurontin.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Most classic antiseizure medicines
can lead to acute porphyria attacks.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Neurological manifestations in Acute intermittent
porphyria (AIP)
usually begin in the lower limbs.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Usually, Acute intermittent porphyria (AIP)
neuropathy is a motor neuropathy that is more
predominant in the lower limbs.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Any nerve can be involved in neuropathy in
Acute intermittent porphyria (AIP), and cranial
neuropathies also are observed.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Cortical blindness in Acute intermittent
porphyria (AIP) is common..
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Tachycardia involces 30-80% of Acute
intermittent porphyria (AIP)patients.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Fever can be present in some Acute
intermittent porphyria (AIP) patients.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
The majority of Acute intermittent
porphyria (AIP) patients experience Hypertension.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Hypertension in Acute intermittent
porphyria (AIP) may persist between attacks.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Acute intermittent porphyria (AIP) patients
may have very severe abdominal pain
lasting several days.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Pain of short duration (minutes) or chronic
abdominal pain is not observed in
Acute intermittent porphyria (AIP).
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Pain in Acute intermittent porphyria (AIP)
often is epigastric and colicky in nature.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Acute intermittent porphyria (AIP) patients
often are free of pain between attacks.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Constipation is common and can be very severe
in Acute intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Nausea is very common during acute attacks in
Acute intermittent porphyria (AIP)
The use of Zofran during acute attacks can
safely stop nausea and vomiting in AIP.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++
Vomiting is experienced by most Acute intermittent
porphyria (AIP) patients during acute attacks.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Seizure activity may occur in Acute
intermittent porphyria (AIP).
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Mental changes are frequently noted during
acute attacks of Acute intermittent porphyria (AIP).
SOURCE:
Dr. Kenneth Carlson
Neuropsychiatric Medicine
++++++++++++++++++++
Patients can have a wide variety of
psychiatric symptoms
in Acute intermittent porphyria (AIP).
SOURCE:
Dr. Kenneth Carlson
Neuropsychiatric Medicine
++++++++++++++++++++
Acute intermittent porphyria (AIP) patients may
have central nervous system signs consisting of seizures.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Mental status changes often occur in Acute
intermittent porphyria (AIP).
SOURCE:
Dr. Kenneth Carlson
Neuropsychiatric Medicine
+++++++++++++++++++++
Coma may present in Acute intermittent porphyria (AIP).
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria (AIP) Patients often
experience peripheral neuropathies that are
predominantly motor and can mimic Guillain-Barré syndrome.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The weakness in Acute intermittent porphyria (AIP)
usually starts in the lower limbs and ascends,
but neuropathies can be observed in any nerve distribution.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Diffuse pain, especially in the upper body, can be observed
in .Acute intermittent porphyria (AIP)
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Acute intermittent porphyria (AIP) Patients may
develop autonomic neuropathies.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Hypertension and tachycardia are common
autonomic neuropathies found in .Acute
intermittent porphyria (AIP).
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
The sequence of events in Acute intermittent
porphyria (AIP) attacks usually is (1) abdominal pain,
(2) psychiatric symptoms, such as hysteria,
and (3) peripheral neuropathies.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Most Acute intermittent porphyria (AIP) patients are
completely free of symptoms between attacks.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
How the porphyrin precursors lead to Acute intermittent
porphyria (AIP) symptoms is unknown.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Acute intermittent porphyria (AIP) displays
neurovisceral symptoms but no skin manifestations.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The neurovisceral symptoms of Acute
intermittent porphyria (AIP) consist of
autonomic neuropathies (eg, constipation,
colicky abdominal pain, vomiting, hypertension),
peripheral neuropathy, seizures, delirium,
coma, and depression.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
The abdominal pain of Acute intermittent porphyria (AIP)
is severe and lasts for several days.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Severe abdomen pain of short (<1 d) duration
or chronic abdominal pain is unusual.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria (AIP) can be triggered by unsafe drugs.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Acute intermittent porphyria (AIP) do not have a rash like other tyhpes of
porphyrias.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Many neropathies can present in Acute intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Acute intermittent porphyria (AIP) is an autosomal dominant disease.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
The inheritance pattern of Acute intermittent porphyria (AIP) is autosomal
dominant.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria (AIP) results from defects in the enzyme
porphobilinogen-deaminase.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The porphobilinogen-deaminase enzyme speeds the conversion of
porphobilinogen to hydroxymethylbilane in Acute intermittent porphyria (AIP).
SOURCE:
Mark Matthews PhD
Biochemistry
++++++++++++++++++++
In Acute intermittent porphyria (AIP) the porphyrin precursors, porphobilinogen
and amino-levulinic acid (ALA), accumulate.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The predominant problem in Acute intermittent
porphyria (AIP) appears to be neurologic damage
that leads to peripheral and autonomic neuropathies
and psychiatric manifestations.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
A number of unsafe drugs exist of which use of any one
of them can result inducing heme synthesis thereby
triggering acute intermittent porphyria (AIP).
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Although Acute intermittent porphyria (AIP)
patients with acute attacks always have
elevations of porphobilinogen and ALA,
how this leads to the symptomatic disease
is still unclear because most patients with
the genetic defect have excessive porphyrin
secretion but no symptoms.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The Acute intermittent porphyria (AIP) patient
should receive a high-carbohydrate diet during
the attack.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
If the Acute intermittent porphyria (AIP) patient is
unable to eat, intravenous glucose should be administered.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
During acute attacks an Acute intermittent porphyria
(AIP) patientshould ingest a minimum of 350 grams
of carbohydrate.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Between attacks, eating a balanced diet is more i
mportant than eating one rich in glucose for Acute
intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Imaging studies are not helpful in Acute
intermittent porphyria (AIP).
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Abdomen films in Acute intermittent porphyria
(AIP) demonstrate an ileus.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Findings on cranial CT scan are normal in Acute
intermittent porphyria (AIP)
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
.
Brain MRI given Acute intermittent porphyria (AIP) patients occasionally shows
signs of increased edema in patients
having very severe attacks.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Edema can be present in Acute intermittent porphyria (AIP)
patients.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
The fundamental step in diagnosing Acute intermittent
porphyria (AIP) is to demonstrate increased urinary
porphobilinogen secretion.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
If a suspected patient has no increased secretion of
porphobilinogen, acute porphyria is
eliminated as a cause of the neurovisceral symptoms.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
A common error in the diagnosis of acute porphyria
is the failure to order urine porphyrins.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Porphobilinogen, a porphyrin precursor, usually is
not included in a urine porphyrin screen and must
be ordered specially.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Acute intermittent porphyria (AIP) patients have elevated porphobilinogen
between attacks.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
In some Acute intermittent porphyria (AIP)
patients with a remote (years) history of attacks,
porphobilinogen can return to the reference range.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Elevation of urine porphyrins, especially
croporphobilinogen, is observed in Acute i
ntermittent porphyria (AIP).
This is caused by spontaneous
polymerization of
porphobilinogen in the urine.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Nonspecific (1-2 times reference range) elevation
of urine porphyrins, especially coproporphyrins,
is common and is not indicative of porphyria in
many suspected porphyria patients.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Fecal studies in Acute intermittent porphyria (AIP)
are normally found to be within range.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
In Acute intermittent porphyria (AIP) Stool
porphyrins are within the reference range or
mildly elevated.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Mild leukocytosis is often found in Acute intermittent
porphyria (AIP).
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Some nonspecific signs in an attack of Acute
intermittent porphyria (AIP) include hyponatremia,
syndrome of inappropriate secretion of antidiuretic
hormone (SIADH), and mild leukocytosis.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Use of tobacco products should be avoided in AIP.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Hyponatremia often presents in Acute intermittent
porphyria (AIP).
Although a defective enzyme causes Acute intermittent
porphyria (AIP), measuring the activity of porphobilinogen
deaminase is of little value.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Approximately 14% of Acute intermittent porphyria
(AIP) patients will have normal activity because a
different form of the enzyme is expressed in the hematopoietic tissues.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
The different forms are the basis of
AIP TYpe I and AIP Type II.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
The vast majority of Acute intermittent porphyria
(AIP) patients with the defective enzyme do not
have any symptoms of the disease.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria (AIP) is due to a
combination of a genetic enzyme defect and
acquired causes that become symptomatic
only in some patients.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
In patients with Acute intermittent porphyria (AIP),
the function of porphobilinogen-deaminase is
only 40-60% of normal.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
With the advent of molecular technique, the genetic
defect of Acute intermittent porphyria (AIP) clearly is
more common than symptomatic AIP.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
On average, out of patients with the genetic defect,
perhaps 10-20 % secrete excess porphyrin
precursors and only 1-2 have symptoms.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
The classic inducers of porphyria are chemicals
or situations that boost heme synthesis.
This includes fasting and many medications.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Although very large lists of "safe" and "unsafe"
drugs exist, many of these are based on
anecdotes or laboratory evidence and do
not meet strict criteria.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Use of alcohol should be avoided in AIP.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++
In general, drugs that lead to increased activity of the hepatic
P450 system, such as phenobarbital,
sulfonamides, estrogens, and alcohol,
are associated with AIP porphyria.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Fasting for several days also can trigger
an attack of Acute intermittent porphyria (AIP).
However, many attacks occur without any obvious
provocation
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
A rapid pulse is commonly associated
with attacks in Acute intermittent porphyria (AIP)
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
From 30-80% of Acute intermittent porphyria
(AIP) patients have tachycardia.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Propranolol has often been prescribed for the
treatment of hypertension and tachycardia in
AIP patients.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Fever can be present in some Acute
intermittent porphyria (AIP) patients.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Cardiac arthymias can present in Acute
intermittent porphyria (AIP).
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
High blood pressure is commonly associated
with the onset of
an acute attack of Acute intermittent
porphyria (AIP).
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Hypertension is observed in half of patients and may persist between attacks.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Neurological manifestations are part of Acute intermittent porphyria (AIP)
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Acute intermittent porphyria (AIP) neuropathy is usually a motor neuropathy that
is more predominant in the lower limbs.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Areflexia often is present on examination in most Acute intermittent porphyria
(AIP).
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
In Acute intermittent porphyria (AIP) any nerve can be involved, and cranial
neuropathies also are observed.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The cranial nerve can be affected in Acute intermittent porphyria (AIP).
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Acute intermittent porphyria (AIP) Patients also may have cortical blindness.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Despite the intense pain, the findings on abdominal examination often are
nonspecific in Acute intermittent porphyria (AIP).
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Unlike many other porphyrias, Acute intermittent porphyria (AIP) Type I is not
associated with a skin rash.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Photosensitivty is not a symptom of Acute intermittent porphyria (AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Treatment for acute attacks of Acute intermittent porphyria (AIP) is to decrease
heme synthesis and reduce the production of porphyrin precursors.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
High doses of glucose (400 g/d) can inhibit heme synthesis and are useful for
treatment of mild attacks of Acute intermittent porphyria (AIP) .
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Pain control in Acute intermittent porphyria (AIP) is best
achieved with narcotics.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Laxatives and stool softeners should be administered with the narcotics to avert
exacerbating existing constipation in Acute intermittent porphyria (AIP).
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
In Acute intermittent porphyria (AIP) seizures should be treated with Neurontin.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Most classic antiseizure medicines can lead to acute porphyria attacks.
SOURCE:
Francisco Talavera, PharmD, PhD,
Pharmacology
+++++++++++++++++
Neurological manifestations in Acute intermittent
porphyria (AIP)
usually begin in the lower limbs.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Usually, Acute intermittent porphyria (AIP) neuropathy is a motor neuropathy
that is more predominant in the lower limbs.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Any nerve can be involved in neuropathy in Acute intermittent porphyria (AIP),
and cranial
neuropathies also are observed.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Cortical blindness in Acute intermittent porphyria (AIP) is common..
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Tachycardia involces 30-80% of Acute intermittent porphyria (AIP)patients.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Fever can be present in some Acute intermittent porphyria (AIP) patients.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
The majority of Acute intermittent porphyria (AIP) patients experience
Hypertension.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Hypertension in Acute intermittent porphyria (AIP) may persist between attacks.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Acute intermittent porphyria (AIP) patients
may have very severe abdominal pain
lasting several days.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Pain of short duration (minutes) or chronic abdominal pain is not observed in
Acute intermittent porphyria (AIP).
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Pain in Acute intermittent porphyria (AIP) often is epigastric and colicky in
nature.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Acute intermittent porphyria (AIP) patients often are free of pain between
attacks.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Constipation is common and can be very severein Acute intermittent porphyria
(AIP).
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Nausea is very common during acute attacks inAcute intermittent porphyria (AIP)
The use of Zofran during acute attacks cansafely stop nausea and vomiting in
AIP.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++
Vomiting is experienced by most Acute intermittent porphyria (AIP) patients
during acute attacks.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Seizure activity may occur in Acute intermittent porphyria (AIP).
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Mental changes are frequently noted during acute attacks of Acute intermittent
porphyria (AIP).
SOURCE:
Dr. Kenneth Carlson
Neuropsychiatric Medicine
++++++++++++++++++++
Patients can have a wide variety of psychiatric symptoms
in Acute intermittent porphyria (AIP).
SOURCE:
Dr. Kenneth Carlson
Neuropsychiatric Medicine
++++++++++++++++++++
Acute intermittent porphyria (AIP) patients may have central nervous system
signs consisting of seizures.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Mental status changes often occur in Acute intermittent porphyria (AIP).
SOURCE:
Dr. Kenneth Carlson
Neuropsychiatric Medicine
+++++++++++++++++++++
Coma may present in Acute intermittent porphyria (AIP).
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria (AIP) Patients often experience peripheral
neuropathies that are predominantly motor and can mimic Guillain-Barré
syndrome.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The weakness in Acute intermittent porphyria (AIP) usually starts in the lower
limbs and ascends, but neuropathies can be observed in any nerve distribution.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Diffuse pain, especially in the upper body, can be observedin .Acute intermittent
porphyria (AIP)
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Acute intermittent porphyria (AIP) Patients may develop autonomic
neuropathies.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
Hypertension and tachycardia are common autonomic neuropathies found in
.Acute intermittent porphyria (AIP).
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
The sequence of events in Acute intermittent porphyria (AIP) attacks usually is
(1) abdominal pain, (2) psychiatric symptoms, such as hysteria, and (3)
peripheral neuropathies.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Most Acute intermittent porphyria (AIP) patients are completely free of
symptoms between attacks.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
How the porphyrin precursors lead to Acute intermittent porphyria (AIP)
symptoms is unknown.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
Acute intermittent porphyria (AIP) displays neurovisceral symptoms but no skin
manifestations.
SOURCE:
Rajalaxmi McKenna, MD, FACP,
Southwest Medical Consultants, SC,
Department of Medicine,
Good Samaritan Hospital,
Advocate Health Systems
+++++++++++++++++++++
The neurovisceral symptoms of Acute intermittent porphyria (AIP) consist of
autonomic neuropathies (eg, constipation, colicky abdominal pain, vomiting,
hypertension), peripheral neuropathy, seizures, delirium, coma, and depression.
SOURCE:
Emmanuel C Besa, MD,
Department of Internal Medicine,
Division of Hematology and Oncology,
Drexel University College of Medicine
++++++++++++++++++++
The abdominal pain of Acute intermittent porphyria (AIP)is severe and lasts for
several days.
SOURCE:
Marcel E Conrad, MD
Distinguished Professor of Medicine,
University of South Alabama;
Director, Clinical Cancer Research Program,
The Cancer Center,
Mobile Infirmary Medical Center
++++++++++++++++++++++
Severe abdomen pain of short (<1 d) duration or chronic abdominal pain is
unusual.
SOURCE:
Clarence Sarkodee-Adoo, MD
Consulting Staff,
Department of Bone Marrow Transplantation,
City of Hope Samaritan
++++++++++++++++++
Acute intermittent porphyria is a genetic hepatic porphyria characterized by
acute gastrointestinal and neurological symptoms, and accompanied by excess
excretion of delta-aminolevulinic acid and porphobilinogen.
SOURCE:
Abnormal thyroid function and
hypercholesterolemia in
acute intermittent porphyria.
Shiue JW, et. al.
Taiwan Yi Xue Hui Za Zhi.
1989 Jul;88(7):729-31.
+++++++++
Acute Intermittent Porphyria (AIP) is one of a group of hereditary hepatic
Porphyrias.
SOURCE:
Acute Intermittent Porphyria
National Organization for Rare Disorders
+++++++++
Acute intermittent porphyria (AIP) is an inborn error of metabolism inherited via a
fully identified autosomal dominant gene.
The porphyrias, a group of diseases caused by various defects in the heme
biosynthetic pathway.
SOURCE:
Treatment of Hypertension in a Patient With Acute Intermittent Porphyria?
Bruce Gardner, MD
Associate Clinical Professor of Family Medicine
University of Washington, Seattle
Attending Physician, Family Medicine
Swedish Hospital and Medical Center, Seattle
+++++++++
Acute intermittent porphyria (AIP) is an inborn error of metabolism
characterized by the excretion of excess porphyrin precursors
(porphobilinogen and usually delta-aminolevulinic acid) in the urine, and by
sporadic attacks of neurologic dysfunction.
SOURCE:
Acute intermittent porphyria: clinical and selected research aspects.
Tschudy DP, Valsamis M, Magnussen CR.
Annals of Internal Medicine
1975 Dec;
83(6):851-64.
+++++++++++++++
Acute intermittent porphyria is an autosomal dominant inbornerror of heme
biosynthesis.
SOURCE:
Acute intermittent porphyria associated with epilepsy in a child.
Chaix, Y., C. Gencourt, et al.
Pediatrucs 1997;
4(10): 971-4.
++++++++++
Acute intermittent porphyria (AIP) is an autosomal disease that presents with
gastrointestinal, psychiatric, and neurological symptoms.
SOURCE:
"Acute intermittent porphyria in a children's psychiatric hospital."
Boon, F. F. and C. Ellis (1989).
Journal pf the American Academy
of Child and Adolescent Psychiatry
1989; 28(4): 606-9.
+++++++++
Acute intermittent porphyria (AIP) is a metabolic disease with clinical
manifestations that mimic other abdominal, neurologic, or mental crises
SOURCE:
Molecular and biochemical studies of AIP
Kauppinen R, et. al.
Department of Medicine
Division of Endocrinology
University Hospital of Helsinki Finland.
Clinical Chemistry
2002 Nov;48(11):1891-900
++++++++++++
AIP is characterized by potentially lethal acute attacks.
SOURCE:
Jean-Charles Deybach, M.D., Ph.D.
Hôpital L. Mourier and Faculté de Médecine X. Bichat
Université Paris 7, France
++++++++++
AIP attacks are characterized by abdominal pains, neurologic and psychiatric
disorders.
The most important thing about AIP is to diagnose the disease at the onset.
SOURCE:
Vojnosanit Pregl
2001 Jan-Feb;58(1):95-9
Acute intermittent porphyria as a problem in
differential diagnosis
Preradovic M, et. al.
+++++++++++
Acute intermittent porphyria is characterized by intermittent, acute, occasionally
fatal attacks of abdominal, neurologic, psychiatric, and renal symptoms.
SOURCE:
AACN Clinical Issues
Critical Care Nursing
1994 Feb;5(1):36-41
Caring for patients with acute intermittent porphyria.
Shively BD, et.aL.
+++++++++++
AIP is caused by an altered autonomic activity.
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
++++++++++
The hereditary disorder acute intermittent porphyria is potentially fatal.
SOURCE:
Acute intermittent porphyria treated by testosterone implant.
Savage MW, et. al.
University of Manchester
Department of Medicine and Endocrinology
Hope Hospital, Salford, UK.
Postgraduate Medicine Journal
1992 Jun;68(800):479-81
+++++++++++
There is abnormal carbohydrate metabolism in AIP.
SOURCE:
Abnormal steroid hormone metabolism in the genetic liver disease acute
intermittent porphyria.
Kappas A, et. al.
Annals of N Y Academy of Science
1971 Jul 6;179:611-24.
++++++++++++
Acute Intermittent Porphyria (AIP) is one of a group of hereditary hepatic
Porphyrias.
SOURCE:
Acute Intermittent Porphyria
National Organization for Rare Disorders
++++++++++
The clinical picture of AIP may mimic an accute inflammatory abdominal
disease.
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
++++++++++++
The frequency and severity of AIP attacks vary widely.
SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
++++++++++
Acute Intermittent Porphyria (AIP) is characterized primarily by gastrointestinal
and neurological complaints.
SOURCE:
Acute Intermittent Porphyria
Medicore Ltd.
1996
+++++++++++
Acute intermittent porphyria (AIP) is characterized by attacks of abdominal pain
and neuropsychiatric symptoms.
In northern Sweden, about half of those patients carrying the gene encoding for
this condition have experienced attacks with abdominal pain, more frequently
and more severely affecting women.
SOURCE:
Beneficial Effect of Diabetes on
Acute Intermittent Porphyria
Folke Lithner, MD, PHD
Department of Internal Medicine
University Hospital, Umea, Sweden
Diabetes Care
2002; 25:797-798
++++++++++
Acute intermittent porphyria is a autosomal dominant disorder caused by a
defect inporphobilinogen deaminase activity.
Many case exist in latent form, but in manifest case it ismore frequently seen in
women.
The estimated prevalence of the disorder is 5-10 case per 100,000 population.
The latent form of the disease may exist indefinitely, but certain drugs,
infections, and excessive dieting (starvation) can precipitate attacks.
The most common drugs are sulfonamides and barbiturates (often seen when
give Phenobarbital for pain relief with dental surgery).
In the acute attack the neurological dysfunction can involve any portion of the
nervous system.
It is believed that an imbalance in the autonomic innervation of the gut leads to
abdominal pain which is commonly associated with the attack.
If peripheral neuropathy, such as pain in the back and legs or parathesias
occurs it is almost always preceded by abdominal pain.
Complete flaccid paralysis can develop over a few days.
Other autonomic neuropathies that may be seen are sweating, vascular spasm,
labile hypertension, and sinus tachycardia.
A grave sign is the development of respiratory paralysis and in very severe
attacks patients are unable to speak, breathe, or swallow.
Central nervous dysfunction can be seen as well with hallucinations, seizures,
coma, bulbar paralysis, hypothalamic dysfunction, or cerebellar and
basal ganglion involvement.
A severe hyponatremia can develop from inappropriate release of antidiuretic
hormone, gastrointestinal loss and possibly renal loss.
Other associated problems in some patients may be seen with increased serum
binding globulin, increased cholesterol, and increased amylase.
Laboratory findings.
The defect in porphobilinogen deaminase causes a build up of ALA and
porphobilinogen (PBG) which causes their increased secretion in the urine.
Attacks ofneurological dysfunction is associated with increased levels of ALA
and PBG excretion in the urine with the levels dropping as the patients condition
improves.
At the time of the acute attack, screening tests like the Hoesch or
Watson-Schwartz test for the detection of PBG in urine.
A positive screening test should always be confirmed by a quantitative test for
PBG in the urine.
To discriminate acute intermittent porphyria from variegate porphyria and
hereditary coproporphyria which also can have increased PBG in the urine, a
specific test for erythrocyte PBG deaminase activity is required.
Treatment. Patients should be instructed on the precipitating factors to avoid.
A high carbohydrate diet (greater than 400 g/day) can cause a decrease of
porphyrin precursor excretion and results in clinical improvement in some cases.
For the abdomnial pain phenothiazines can be used for control with merperidine
use if necessary.
Autonomic manifestations such as hypertension and tachycardia have been
controlled with the use of propanolol.
In patients who do not have coagulopathies or are not on anticoagulant therapy
the use of hematin can be considered.
If started early in the attack it may have benefit through the lowering of porphyrin
precursor excretion.
Since nerve regeneration is the rat-limiting factor to improvement of established
neuropathy, hematin will have no effect on recovery.
SOURCE:
University School of Medicine
++++++++++
AIP CAUSE
Acute intermittent porphyria is caused by a genetic defect of the deaminase
gene located on the 11. chromosome.
SOURCE:
Acute intermittent porphyria
Sedlak T, Pontuch P, Duris I.
Univerzity of Komenskehov
Bratislava, Slovakia
Bratislava Lek Listy
1998 Oct;99(10):536-7
++++++++++
AIP results from a deficiency of porphobilinogen deaminase (PBG deaminase).
SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++
All cases of acute intermittent porphyria (AIP) are believed to be caused by a
mutation in the gene encoding for porphobilinogen deaminase,(PBG-D) a
rate-limiting enzyme in the heme synthetic pathway.
SOURCE:
Acta Psychiatric Scandinvia
1994 Apr;89(4):262-7
Acute intermittent porphyria and mental illness
Patience DA, Blackwood DH, McColl KE, Moore MR.
Department of Psychiatry,
University of Edinburgh,
Royal Edinburgh Hospital, United Kingdom.
++++++++++++
Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant
disorder caused by mutations in the porphobilinogen deaminase gene (PBGD).
SOURCE:
Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene
among Acute Intermittent Porphyria Patients
Xiaoye Schneider-Yin,, Martin Hergersberg,, David E. Goldgar, Urszula B.
Rüfenacht, Macé M. Schuurmans, Hervé Puy, Jean-Charles Deybach, Elisabeth
I. Minder
Human Heredity
2002;54:69-81
++++++++++++
The pathogenesis of AIP is not known but it is suggested that lack of
haeme, or an accumulation of porphyrin precursors affecting the nervous
system, is chiefly responsible for the clinical expression of AIP.
SOURCE:
Effects of diabetes mellitus on patients with acute intermittent porphyria
C. Andersson et. al.
Journal of Internal Medicine
Volume 245
Issue 2 Page 193 -
February 1999
+++++++++++
AIP is caused by an altered autonomic activity.
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++++
As a result of the deficiency in PBG deaminase in AIP, there is excess formation
and urinary excretion of the porphyrin precursors, 5-aminolaevulinic acid and
porphobilinogen which are formed prior to the enzyme defect.
SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++
AIP becomes manifested only in the case of increased demands on given
metabolic pathway resulting in porphobilinogen accumulation and storage
in the organism.
SOURCE:
Acute intermittent porphyria
Sedlak T, Pontuch P, Duris I.
Univerzity of Komenskehov
Bratislava, Slovakia
Bratislava Lek Listy
1998 Oct;99(10):536-7
+++++++++++
In Acute Intermittent Porphyria the deficient enzyme is porphobilinogen
deaminase (PBG-D), also known as uroporphyrinogen I-synthase.
This enzyme deficiency by itself is not sufficient to produce symptoms of the
disease.
SOURCE:
Acute Intermittent Porphyria
National Organization for Rare Disorders
+++++++++++
The deficient enzyme is porphobilinogen deaminase (PBGD), also known as
hydroxymethylbilane synthase.
This enzyme was formerly known as uroporphyrinogen I-synthase, and this
term is still used by some clinical laboratories.
A deficiency of PBGD is not sufficient by itself to produce AIP, and other
activating factors must also be present.
These include hormones, drugs and dietary changes.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++
The defective gene in Acute Intermittent Porphyria (AIP)is porphobilinogen
(PBG) deaminase.
SOURCE:
Acute Intermittent Porphyria
Medicore Ltd.
1996
++++++++++
Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by
a mutation in the gene coding for the porphobilinogen deaminase enzyme in the
haem biosynthesis.
SOURCE:
Acute intermittent porphyria
Brekke OL. et. al.
Medisinsk avdeling Nordland Sentralsykehus 8092 Bodo.
Tidsskr Norwegian Laegeforen
2002 Apr 30;122(11):1102-5
++++++++++
The genetic chromosone for Acute Intermittent Porphyria (AIP)is11q24.1-q24.2.
SOURCE:
Acute Intermittent Porphyria
Medicore Ltd.
1996
+++++++++
The gene coding for human PBGD was characterized in 1986 which enabled the
characterization of the molecular genetic background of AIP.
SOURCE:
Molecular genetics of acute intermittent
porphyria in Finland
Sami Mustajoki
Division of Endocrinology,
Department of Medicine,
University of Helsinki &
Department of Human Molecular Genetics,
National Public Health Institute, Finland
+++++++++++
The porphobilinogen deaminase (PBGD) mutations in AIP patients have been
identified in Finland.
Diagnoses or exclusions of AIP were based on clinical data (including family
history), biochemical tests, and mutation testing.
SOURCE:
Increased activity og PBGD in erythrocytes in AIP attacks
Kostrzewska, E. et. al.
1986
++++++++
In biochemical terms, AIP is an autosomal hereditary metabolic aberration
resulting from a partial defect in the activity of the third-step enzyme
(porphobilinogen deaminase, PBGD) during the course of haeme synthesis.
Any factor leading to an increased enzyme requirement, using haeme
as a prosthetic group, or to increased degradation of haeme, will reduce the
haeme pool and consequently stimulate the first-step enzyme ALA- synthase
-aminolevulinic acid.
This in turn leads to an accumulation of porphyrin precursors prior to the third
enzyme step.
Liver haeme deficiency causes continued induction of ALA-synthase and
triggers off an escalating metabolic chain reaction.
SOURCE:
Effects of diabetes mellitus on patients with acuteintermittent porphyria
C. Andersson et. al.
Journal of Internal Medicine
Volume 245
Issue 2 Page 193 -
February 1999
++++++++++
In the Finnish family studies through biochemical tests, and mutation testing,
researchersretrospectively evaluated thediagnostic accuracy of erythrocyte
PBGD activity, urinary excretion of porphobilinogen (PBG) and
delta-aminolevulinic acid, and urinary and fecal excretion of
porphyrins in these patients.
SOURCE:
Molecular and biochemical studies of acute intermittent porphyria in 196 patients
and their families.
Kauppinen R, Von Und Zu Fraunberg M.
Department of Medicine
Division of Endocrinology
University Hospital of Helsinki
Helsinki, Finland.
Clinical Chemistry
2002 Nov;48(11):1891-900
+++++++++
PBG-D gene has been mapped to the long arm of chromosome 11, a region of
the genome that has recently attracted considerable attention as a possible
location for genes implicated in major mental disorder.
SOURCE:
Acta Psychiatric Scandinvia
1994 Apr;89(4):262-7
Acute intermittent porphyria and mental illness
Patience DA, Blackwood DH, McColl KE, Moore MR.
Department of Psychiatry,
University of Edinburgh,
Royal Edinburgh Hospital, United Kingdom.
------------------
Gene carriers of acute intermittent porphyria, which have normal
porphobilinogen deaminase activity but display slight, moderate or high
aberrations of excretion, are recognized by analysis of urinary haem precursors
and faecal porphyrins.
SOURCE:
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte
porphobilinogen deaminase activity in Germany.
Gross U, Honcamp M, Doss MO.
Abteilung fur Klinische Biochemie
Klinikum der Philipps-Universitat Marburg
Deutschland.
European Journal of Clinical Chemistry & Clinical Biochemistry. 1996
Aug;34(8):613-8.
+++++++++++
AIP BIOCHEMICAL DESCRIPTION
In biochemical terms, AIP is an autosomal hereditary metabolic aberration
resulting from a partial defect in the activity of the third-step enzyme
(porphobilinogen deaminase, PBGD) during the course of haeme synthesis.
Any factor leading to an increased enzyme requirement, using haeme as a
prosthetic group, or to increased degradation of haeme, will reduce the haeme
pool and consequently stimulate the first-step enzyme ALA- synthase
-aminolevulinic acid.
This in turn leads to an accumulation of porphyrin precursors prior to the third
enzyme step.
Liver haeme deficiency causes continued induction of ALA-synthase and
triggers off an escalating metabolic chain reaction.
SOURCE:
Effects of diabetes mellitus on patients with acute intermittent porphyria
C. Andersson et. al.
Journal of Internal Medicine
Volume 245
Issue 2 Page 193 -
February 1999
++++++++++
In biochemical terms, AIP is an autosomal hereditary metabolic aberration
resulting from a partial defect in the activity of the third-step enzyme
(porphobilinogen deaminase [PBGD]) during the course of heme synthesis.
SOURCE:
Beneficial Effect of Diabetes on
Acute Intermittent Porphyria
Folke Lithner, MD, PHD
Department of Internal Medicine
University Hospital, Umea, Sweden
+++++++++++
There is a partial defect in the activity of the third-step enzyme PBGD in the
synthesis of heme.
Diabetes Care
2002; 25:797-798
PBG deaminase catalyzes the condensation of four molecules of PBG to yield a
linear tetrapyrrole, hydroxymethylbilane (HMB).
There are two isozymes of PBG deaminase; one is present exclusively in
erythroid cells, whereas the other is in nonerythroid cells.
The two isoforms of PBG deaminase are encoded by distinct messenger RNAs
(mRNAs) that are transcribed from a single gene by alternate transcription and
splicing.
SOURCE:
MERCK HANDBOOK
1995-2002
Merck & Co., Inc.,
Whitehouse Station, NJ
+++++++++++
Acute intermittent porphyria is one of a group of metabolic diseases called the
porphyrias that may lead to symptoms of the central nervous system during an
acute exacerbation.
SOURCE:
Psychotropic drugs in acute intermittent porphyria.
Holroyd S, Seward RL.
Department of Psychiatric Medicine
University of Virginia Health Sciences Center, Charlottesville
Clinical Pharmacologic Therapy
1999 Sep;66(3):323-5
++++++++++
Acute intermittent porphyria is caused by a genetic defect of the deaminase
gene located on the 11. chromosome.
SOURCE:
Acute intermittent porphyria
Sedlak T, Pontuch P, Duris I.
Univerzity of Komenskehov
Bratislava, Slovakia
Bratislava Lek Listy
1998 Oct;99(10):536-7
+++++++++++
Almost every family with AIP has a different mutation in this gene.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++
The fundamental defect in AIP is thought to be a 50% decrease of
uroporphyrinogen I synthetase, the third enzyme of the heme biosynthetic
pathway.
SOURCE:
Acute intermittent porphyria:
clinical and selected research aspects.
Tschudy DP, Valsamis M, Magnussen CR.
Annals of Internal Medicine
1975 Dec;
83(6):851-64.
+++++++++++++
Almost every family with AIP has a different mutation in this gene.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++
Acute intermittent porphyria (AIP) is complex, involving variable patterns of
autonomic and peripheral neuropathy as well as the central nervous system
manifestations.
SOURCE:
Acute intermittent porphyria:
clinical and selected research aspects.
Tschudy DP, Valsamis M, Magnussen CR.
Annals of Internal Medicine
1975 Dec;
83(6):851-64.
+++++++++++
In Acute Intermittent Porphyria the deficient enzyme is porphobilinogen
deaminase (PBG-D), also known as uroporphyrinogen I-synthase.
This enzyme deficiency by itself is not sufficient to produce symptoms of the
disease.
SOURCE:
Acute Intermittent Porphyria
National Organization for Rare Disorders
++++++++++
Acute intermittent porphyria is one of the more acute attack form porphyrias,
and results from an autosomal dominant inheritance of a partialdefect in the
activity of porphobilinogen deaminase.
SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
+++++++++++
Acute intermittent porphyria (AIP) is a metabolic disease with clinical
manifestations that mimic other abdominal, neurologic, or mental crises.
SOURCE:
Molecular and biochemical studies
of acute intermittent porphyria in
196 patients and their families.
Kauppinen R, Von Und Zu Fraunberg M.
Department of Medicine
Division of Endocrinology
University Hospital of Helsinki
Helsinki, Finland.
Clinical Chemistry
2002 Nov;48(11):1891-900
+++++++++++
In AIP there is at least a 50% of the normal enzyme activity in a patient due to
the porphyria gene defect.
This reduced level of enzyme results in a build up of precursors behind the
deficient enzyme which then accumulate in body fluids and tissues.
SOURCE:
Medic's Handbook
1995
+++++++++
Whenever a causative mutation is identified, it becomes possible to test family
members for that mutation and definitely diagnose or exclude AIP.
SOURCE:
Acute Intermittent Porphyria
Scheiber, William E. et. al.
American Jornal of Clinical Pathology
Vol. 103 No. 6
June 1995
+++++++++++
Syndrome Name acute hepatic porphyria (AIP)
Enzyme delta-aminolevulinate dehydrase
Inheritance Pattern AR
Location 9q
SOURCE:
Dr. Robert Huskey
University of Virginia
1997
++++++++++
AIP is caused by a genetic defect of the deaminase gene located on the11.
chromosome.
SOURCE:
Acute intermittent porphyria
Sedlak T, et. al.
Bratislava Lek Listy, Slovakia
1998 Oct;99(10):536-7
++++++++++
The genetic chromosone for Acute Intermittent Porphyria (AIP) is11q24.1-q24.2.
SOURCE:
Acute Intermittent Porphyria
Medicore Ltd.
1996
++++++++++++
As a result of the deficiency in PBG deaminase in AIP, there is excess formation
and urinary excretion of the porphyrin precursors, 5-aminolaevulinic acid and
porphobilinogen which are formed prior to the enzyme defect.
SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++
As in most other populations AIP mutations are highly heterogeneous both in
their type and location.
Furthermore, almost all mutations are family specific.
SOURCE:
Molecular genetics of acute intermittent porphyria in Finland
Sami Mustajoki
Division of Endocrinology,
Department of Medicine,
University of Helsinki &
Department of Human Molecular Genetics,
National Public Health Institute, Finland
+++++++++++
AIP results from a deficiency of porphobilinogen deaminase (PBG deaminase).
SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
+++++++++++
The pathogenesis of AIP clinical features is poorly understood, but possible
mechanisms include damage by free radicals,direct neurotoxicity of
aminolaevulinic acid, and haem deficiency in nervous tissue.
SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
+++++++++++
Inheritance Pattern
The inheritance pattern of AIP is autosomal dominant.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++
Acute intermittent porphyria is an autosomal dominant condition
SOURCE:
Acute intermittent porphyria
Sedlak T, et. al.
Bratislava Lek Listy, Slovakia
1998 Oct;99(10):536-7
+++++++++++++
Acute intermittent porphyria is a autosomal dominant disorder caused by a
defect in porphobilinogen deaminase activity.
SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
+++++++++++
AIP is an autosomal dominant disease that results from defects in the enzyme
porphobilinogen-deaminase.
This enzyme speeds the conversion of porphobilinogen to hydroxymethylbilane.
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
++++++++++++
Acute intermittent porphyria is an autosomal dominant condition.
SOURCE:
Acute intermittent porphyria
Sedlak T, Pontuch P, Duris I.
Univerzity of Komenskehov
Bratislava, Slovakia
Bratislava Lek Listy
1998 Oct;99(10):536-7
+++++++++++
AIP is autosomal demoninant in inheritance.
SOURCE:
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Associate Director
Department of TransfusionMedicine
Division of Clinical Pathology
Associate Professor
Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon
+++++++++++
Prevalence
Recent population studies suggest that the prevalence of asymptomatic
heterozygotes for a mutant AIP gene may be in the range of 1 in 1,000.
SOURCE:
Seminars in Liver Disease
January 1998;
18(1):17-24
"Acute intermittent porphyria".
Grandchamp Bernard M.D.
INSERM U409,
Faculty of Medicine
Xavier Bichat,
Paris, France.
++++++++++++
Sexual prevalence
There is a clear predominance (80%) of women in AIP. but they are also a
majority among acute porphyrias in general.
SOURCE:
Porphyric crisis: experience of 30 episodes (AIP)
Medicina
Buenas Aires
999;59(1):23-7
Morales Ortega X, et. al.
Departmento of Medicine
Occidente Hospital San Juan de Dios,
University of Chile, Santiago, Chile.
++++++++++++
In most series, AIP affects women more than men, with a ratio of 1.5-2:1. "
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
++++++++++++
AIP affects women more than men.
SOURCE:
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Associate Director
Department of TransfusionMedicine
Division of Clinical Pathology
Associate Professor
Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon
+++++++++++
Geographic prevalence
AIP is most prevalent among the northern European population.
Most of the mutations have been from patoients in France, the Netherlands,
Sweden, FInland and the United Kingdom.
SOURCE:
Acute Intermittent Porphyria
Scheiber, William E. et. al.
American Jornal of Clinical Pathology
Vol. 103 No. 6
June 1995
++++++++++++
The prevalence of AIP varies geographically.
SOURCE:
Acute intermittent porphyria
Brekke OL. et. al.
Medisinsk avdeling Nordland Sentralsykehus 8092 Bodo.
Tidsskr Norwegian Laegeforen
2002 Apr 30;122(11):1102-5
+++++++++++
Onset
AIP acute attacks are most common in people in their 30s, and are four
to five times more common in females than in males, with a peak age
of presentation in the early 30s.
SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
+++++++++++
AIP INHERITANCE & PREVALENCE
Inheritance Pattern
The inheritance pattern of Acute Intermittent Porphyria (AIP) is autosomal
dominant.
SOURCE:
Acute Intermittent Porphyria
Medicore Ltd.
1996
++++++++++
Acute Intermittent Poprhyria is inherited as an autosomal dominant trait.
SOURCE:
Acute Intermittent Porphyria
National Organization for Rare Disorders
+++++++++++
Acute intermittent porphyria is a autosomal dominant disorder.
SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++
Prevalence / Population
Recent data indicates that acute intermittent porphyria(AIP) is not a rare
disease.
SOURCE:
Symptoms due to porphyria
Schattenberg AV et. al.
Ned Tijdschur Geneeskd
August 8; 142 1998
+++++++++++
AIP is the most common type of acute porphyria.
SOURCE:
Jean-Charles Deybach, M.D., Ph.D.
Hôpital L. Mourier and Faculté de Médecine X. Bichat
Université Paris 7, France
++++++++++
Acute intermittent porphyria (AIP) is the most common and severe of the acute
porphyrias.
SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++
Acute Intermittent Porphyria (AIP) is the second most prevalent type of
porphyrias, and the most prevalent of the acute hepatic forms.
SOURCE:
Porphyria Resources
United Medical Services
1996
+++++++++
The epidemiology of Acute Intermittent Porphyria (AIP) worldwide runs at an
incidence: 1/1,000 .
SOURCE:
Acute Intermittent Porphyria
Medicore Ltd.
1996
++++++++
The estimated prevalence of AIP is 1 case per 1,000 population
worldwide.
Cadses of AIP runs much higher is the Scandinavian counties and is less
frequency found in southeast Asia.
SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++
AIP is most prevalent among thenorthern European population.
Most of the mutations have been from patients in France, the Netherlands,
Sweden, FInland and the United Kingdom.
SOURCE:
Acute Intermittent Porphyria
Scheiber, William E. et. al.
American Jornal of Clinical Pathology
Vol. 103 No. 6
June 1995
++++++++++++
Acute intermittent porphyria (AIP) is the commonest of the acute
porphyrias.
SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
+++++++++
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